C1R

complement C1r

Summary

This gene encodes a member of the peptidase S1 protein family. The encoded protein is a proteolytic subunit in the complement system C1 complex. The complement system acts as a mediator in the innate immune response by ultimately triggering phagocytosis, inflammation, and rupturing the bacterial cell wall. Mutations in this gene are associated with Ehlers-Danlos Syndrome. [provided by RefSeq, Dec 2018]

Known Variants71 total

rsidPosition (GRCh37)AllelesClassClinVar
rs14244352712:7,187,854C/T—likely benign
rs78067466212:7,187,863G/C—likely benign
rs138802311612:7,187,881G/A—likely benign
rs20208250912:7,187,941C/T—likely benign
rs77439486912:7,187,954C/T—uncertain significance
rs37346344412:7,187,977T/C—likely benign
rs142417171112:7,188,028G/C—uncertain significance
rs78025267112:7,188,323G/A—uncertain significance
rs7538074712:7,188,562G/Tsynonymous variantbenign
rs77372090312:7,189,347C/T—uncertain significance
rs106049955412:7,189,381A/G—pathogenic
rs54822093512:7,240,932A/G——
rs3613629312:7,241,055A/G—benign
rs19208328312:7,241,086T/C—likely benign
rs15022553812:7,241,128A/G—benign
rs11740203212:7,241,211T/G—likely benign
rs105751957712:7,241,232A/G—pathogenic
rs3618253212:7,241,275G/A—likely benign
rs115990645412:7,241,291A/C—uncertain significance
rs77230623112:7,241,295C/T—uncertain significance
rs76970749212:7,241,317G/Cmissense variantpathogenic
rs155516443712:7,241,318C/T—likely pathogenic
rs253962739512:7,241,425G/A—likely benign
rs105751957612:7,241,446T/C—pathogenic
rs76027793412:7,241,449C/Gmissense variantpathogenic
rs105751557912:7,241,452A/Gmissense variantpathogenic
rs20089948612:7,241,471C/T—conflicting classifications of pathogenicity
rs57048935012:7,241,475C/T—likely benign
rs77767898912:7,241,476G/A—uncertain significance
rs105751864312:7,241,482T/Cmissense variantpathogenic
rs77442404712:7,241,498G/T—uncertain significance
rs381372812:7,241,570C/T—likely benign
rs76329735412:7,241,953T/C—likely benign
rs76932897712:7,241,983C/T—uncertain significance
rs76005265112:7,241,993A/T—uncertain significance
rs253962821012:7,242,004A/G—uncertain significance
rs18915542912:7,242,010G/C—likely benign
rs36770081612:7,242,011G/T—conflicting classifications of pathogenicity
rs37606861412:7,242,022C/T—uncertain significance
rs112660512:7,242,204C/Tmissense variantbenign
rs91607674912:7,242,212T/C—likely benign
rs14414126112:7,242,267G/A—likely benign
rs159159093612:7,242,303T/C—uncertain significance
rs76055345912:7,242,304G/T—uncertain significance
rs37346234512:7,242,309G/A—conflicting classifications of pathogenicity
rs147083433512:7,242,343A/G—uncertain significance
rs253962902912:7,242,650A/G—uncertain significance
rs20053982712:7,242,657G/A—conflicting classifications of pathogenicity
rs78024984812:7,242,681T/A—uncertain significance
rs15095330112:7,242,710G/A—likely benign
rs13953140412:7,242,740C/G—conflicting classifications of pathogenicity
rs14966506012:7,242,742T/C—uncertain significance
rs20018598812:7,242,799C/A—conflicting classifications of pathogenicity
rs193824241912:7,242,811A/G—likely pathogenic
rs75180321812:7,242,853A/G—likely benign
rs460029112:7,242,863G/T—benign
rs433259512:7,242,950G/A—benign
rs450514112:7,242,953G/A—benign
rs648752112:7,243,040C/T—benign
rs14556362412:7,244,042C/T—likely benign
rs193827225412:7,244,076G/A—uncertain significance
rs253963102012:7,244,191T/A—uncertain significance
rs14647889812:7,244,252C/T—likely benign
rs20125538312:7,244,253G/A—likely benign
rs75279580312:7,244,255C/A—likely benign
rs37732680412:7,244,286C/T—benign
rs36778516212:7,244,369C/T—benign
rs74665431812:7,244,377A/G—likely benign
rs11783003912:7,244,382C/A—likely benign
rs1242272412:7,244,956A/T—benign
rs1242683412:7,244,962G/T—benign

Gene information from NCBI Gene. Variant classifications from ClinVar.